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Aortopathy_Connective Tissue Disorders
Gene: AEBP1

AEBP1 (AE binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000106624
EnsemblGeneIds (GRCh37): ENSG00000106624
OMIM: 602981, Gene2Phenotype
AEBP1 is in 2 panels

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 6 unrelated patients reported to date (PMID: 29606302; 30668708; 30548383; 30759870 ).
Phenotype reported to vary: "autosomal-recessive inherited LOF variants in the AEBP1 gene cause clinical features of different EDS subtypes, but also of the marfanoid spectrum" (PMID: 30548383).
Created: 20 Apr 2020, 4:29 a.m. | Last Modified: 20 Apr 2020, 4:29 a.m.

Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos Syndrome (EDS)

Publications

Created: 20 Apr 2020, 4:29 a.m.
Last Modified: 20 Apr 2020, 4:29 a.m.
Panel version: 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000

OMIM

Clinvar variants

Variants in AEBP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aebp1 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000 to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000

20 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000

20 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AEBP1 were set to

20 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AEBP1 was added gene: AEBP1 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AEBP1 was set to Unknown